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LOX lysyl oxidase [ Homo sapiens (human) ]

Gene ID: 4015, updated on 21-Apr-2019

Summary

Official Symbol
LOXprovided by HGNC
Official Full Name
lysyl oxidaseprovided by HGNC
Primary source
HGNC:HGNC:6664
See related
Ensembl:ENSG00000113083 MIM:153455
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAT10
Summary
This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
Expression
Broad expression in fat (RPKM 18.5), gall bladder (RPKM 11.6) and 21 other tissues See more
Orthologs

Genomic context

See LOX in Genome Data Viewer
Location:
5q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (122063195..122078501, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (121398890..121414206, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379149 Neighboring gene uncharacterized LOC105379148 Neighboring gene ferritin mitochondrial Neighboring gene serum response factor binding protein 1 Neighboring gene uncharacterized LOC107986445 Neighboring gene zinc finger protein 474-like Neighboring gene zinc finger protein 474 Neighboring gene synuclein alpha interacting protein Neighboring gene uncharacterized LOC107986446 Neighboring gene uncharacterized LOC153163

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 10 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Canonical and Non-Canonical TGF-B signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-Canonical TGF-B signaling, organism-specific biosystemThis pathway is modeled after Figure 9 in the article "Gremlin utilizes canonical and non-canonical TGFB signaling to induce lysyl oxidase (LOX) genes in human trabecular meshwork cells". Gremlin is ...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Crosslinking of collagen fibrils, organism-specific biosystem (from REACTOME)
    Crosslinking of collagen fibrils, organism-specific biosystemAfter removal of the N- and C-procollagen propeptides, fibrillar collagen molecules aggregate into microfibrillar arrays, stabilized by covalent intermolecular cross-links. These depend on the oxidat...
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC105112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-lysine 6-oxidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
ascending aorta development IEA
Inferred from Electronic Annotation
more info
 
blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
cell chemotaxis IEA
Inferred from Electronic Annotation
more info
 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
cellular response to chemokine IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
connective tissue development IEA
Inferred from Electronic Annotation
more info
 
descending aorta development IEA
Inferred from Electronic Annotation
more info
 
elastic fiber assembly IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor receptor-beta signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of bone development IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of megakaryocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of platelet-derived growth factor receptor-beta signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of receptor binding IEA
Inferred from Electronic Annotation
more info
 
regulation of striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to steroid hormone IEA
Inferred from Electronic Annotation
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein-lysine 6-oxidase
NP_001171573.1
NP_001304002.1
NP_002308.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008722.1 RefSeqGene

    Range
    4860..20166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178102.2NP_001171573.1  protein-lysine 6-oxidase isoform 2

    See identical proteins and their annotated locations for NP_001171573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) is shorter at the N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC010255, AI351010, AK307732, CN265862, DA720490
    UniProtKB/TrEMBL
    B7ZAJ4
    Conserved Domains (1) summary
    pfam01186
    Location:1179
    Lysyl_oxidase; Lysyl oxidase
  2. NM_001317073.1NP_001304002.1  protein-lysine 6-oxidase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC010255, AI351010, AK307732
    UniProtKB/TrEMBL
    B0AZT2
    Conserved Domains (1) summary
    pfam01186
    Location:1112
    Lysyl_oxidase; Lysyl oxidase
  3. NM_002317.7NP_002308.2  protein-lysine 6-oxidase isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_002308.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010255, AI351010, AK307732, BC089436, DC299494
    Consensus CDS
    CCDS4129.1
    UniProtKB/Swiss-Prot
    P28300
    UniProtKB/TrEMBL
    D0PNI2
    Related
    ENSP00000231004.4, ENST00000231004.5
    Conserved Domains (1) summary
    pfam01186
    Location:213409
    Lysyl_oxidase; Lysyl oxidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    122063195..122078501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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